Incidental Mutation 'IGL02567:Efhc1'
| ID |
298874 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Efhc1
|
| Ensembl Gene |
ENSMUSG00000041809 |
| Gene Name |
EF-hand domain (C-terminal) containing 1 |
| Synonyms |
1700029F22Rik, myoclonin1, mRib72-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
IGL02567
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
21021850-21061065 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21043188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 369
(V369E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038447]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038447
AA Change: V369E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000042343
Gene: ENSMUSG00000041809
AA Change: V369E
| Domain | Start | End | E-Value | Type |
|---|
|
DM10
|
93 |
198 |
2.74e-52 |
SMART |
|
DM10
|
239 |
359 |
3.04e-59 |
SMART |
|
DM10
|
416 |
520 |
8.05e-50 |
SMART |
|
SCOP:d1sra__
|
538 |
646 |
2e-12 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous or heterozygous for a null mutation display myoclonus and increased susceptibility to pharmacologically induced seizures. Homozygous mice also display enlarged brain ventricles and reduced hippocampal size. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff4 |
C |
A |
11: 53,263,578 (GRCm39) |
S199R |
possibly damaging |
Het |
| Ano1 |
A |
G |
7: 144,165,362 (GRCm39) |
L621P |
probably damaging |
Het |
| Calcr |
C |
T |
6: 3,691,564 (GRCm39) |
V404M |
probably damaging |
Het |
| Carmil3 |
A |
G |
14: 55,736,339 (GRCm39) |
S635G |
possibly damaging |
Het |
| Ccl12 |
C |
A |
11: 81,993,447 (GRCm39) |
S28R |
possibly damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cdhr3 |
T |
C |
12: 33,088,900 (GRCm39) |
N761D |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,208,357 (GRCm39) |
|
probably null |
Het |
| Col28a1 |
T |
C |
6: 8,014,819 (GRCm39) |
K862R |
possibly damaging |
Het |
| Cyp2c66 |
C |
T |
19: 39,175,084 (GRCm39) |
|
probably benign |
Het |
| D5Ertd615e |
T |
C |
5: 45,320,758 (GRCm39) |
|
noncoding transcript |
Het |
| Deup1 |
T |
C |
9: 15,486,579 (GRCm39) |
E367G |
probably damaging |
Het |
| Dpp8 |
T |
G |
9: 64,986,058 (GRCm39) |
Y849* |
probably null |
Het |
| Entrep2 |
T |
A |
7: 64,436,479 (GRCm39) |
M101L |
possibly damaging |
Het |
| Epg5 |
A |
G |
18: 78,076,288 (GRCm39) |
Y2562C |
probably damaging |
Het |
| Fbln5 |
A |
G |
12: 101,728,059 (GRCm39) |
|
probably null |
Het |
| Frem1 |
A |
T |
4: 82,918,292 (GRCm39) |
M551K |
probably damaging |
Het |
| Gba2 |
T |
C |
4: 43,567,281 (GRCm39) |
S889G |
probably benign |
Het |
| Golph3 |
C |
T |
15: 12,349,507 (GRCm39) |
R176* |
probably null |
Het |
| Got2 |
A |
T |
8: 96,598,829 (GRCm39) |
F191Y |
probably benign |
Het |
| Gtf2ird2 |
G |
T |
5: 134,241,890 (GRCm39) |
|
probably benign |
Het |
| H4c16 |
G |
A |
6: 136,781,272 (GRCm39) |
R36W |
probably damaging |
Het |
| Hivep3 |
A |
G |
4: 119,991,153 (GRCm39) |
T2218A |
probably damaging |
Het |
| Htr1f |
C |
T |
16: 64,746,611 (GRCm39) |
G227D |
probably benign |
Het |
| Ifi202b |
C |
T |
1: 173,791,370 (GRCm39) |
S436N |
possibly damaging |
Het |
| Nf1 |
T |
A |
11: 79,437,969 (GRCm39) |
V2109D |
probably damaging |
Het |
| Opa1 |
C |
A |
16: 29,407,104 (GRCm39) |
D29E |
probably benign |
Het |
| Papln |
C |
T |
12: 83,825,611 (GRCm39) |
P631S |
probably benign |
Het |
| Pde4c |
T |
A |
8: 71,200,570 (GRCm39) |
M352K |
probably benign |
Het |
| Pigu |
T |
C |
2: 155,173,112 (GRCm39) |
T129A |
possibly damaging |
Het |
| Pla2g4c |
T |
A |
7: 13,079,965 (GRCm39) |
H424Q |
probably damaging |
Het |
| Ptpn13 |
T |
G |
5: 103,710,157 (GRCm39) |
L1564R |
probably damaging |
Het |
| Rbm5 |
T |
C |
9: 107,621,473 (GRCm39) |
D642G |
probably damaging |
Het |
| Rnf111 |
T |
C |
9: 70,366,287 (GRCm39) |
T384A |
probably damaging |
Het |
| Scn11a |
T |
C |
9: 119,633,555 (GRCm39) |
T393A |
probably damaging |
Het |
| Sned1 |
A |
T |
1: 93,202,069 (GRCm39) |
K619M |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Syt9 |
A |
G |
7: 107,035,868 (GRCm39) |
Y295C |
probably damaging |
Het |
| Taar7f |
T |
A |
10: 23,926,323 (GRCm39) |
Y306N |
probably damaging |
Het |
| Tmem107 |
T |
G |
11: 68,961,845 (GRCm39) |
L25V |
possibly damaging |
Het |
| Wdr24 |
T |
G |
17: 26,043,322 (GRCm39) |
I48S |
probably damaging |
Het |
| Zc3hc1 |
T |
C |
6: 30,374,848 (GRCm39) |
D231G |
probably benign |
Het |
| Zfp142 |
T |
C |
1: 74,617,309 (GRCm39) |
K341E |
possibly damaging |
Het |
| Zfp142 |
T |
A |
1: 74,617,306 (GRCm39) |
S342C |
possibly damaging |
Het |
| Zfp142 |
T |
G |
1: 74,617,308 (GRCm39) |
K341T |
possibly damaging |
Het |
| Zfp804b |
T |
A |
5: 6,819,989 (GRCm39) |
I989L |
probably benign |
Het |
| Zfyve9 |
A |
C |
4: 108,531,720 (GRCm39) |
V1095G |
probably damaging |
Het |
|
| Other mutations in Efhc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00514:Efhc1
|
APN |
1 |
21,049,705 (GRCm39) |
nonsense |
probably null |
|
|
IGL00549:Efhc1
|
APN |
1 |
21,049,705 (GRCm39) |
nonsense |
probably null |
|
|
IGL01611:Efhc1
|
APN |
1 |
21,060,911 (GRCm39) |
makesense |
probably null |
|
|
IGL01916:Efhc1
|
APN |
1 |
21,048,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02366:Efhc1
|
APN |
1 |
21,030,486 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02590:Efhc1
|
APN |
1 |
21,037,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02869:Efhc1
|
APN |
1 |
21,037,567 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03264:Efhc1
|
APN |
1 |
21,037,715 (GRCm39) |
missense |
probably benign |
|
|
IGL03292:Efhc1
|
APN |
1 |
21,030,496 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03097:Efhc1
|
UTSW |
1 |
21,043,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0023:Efhc1
|
UTSW |
1 |
21,025,751 (GRCm39) |
missense |
probably benign |
|
|
R0180:Efhc1
|
UTSW |
1 |
21,037,713 (GRCm39) |
missense |
probably benign |
|
|
R0220:Efhc1
|
UTSW |
1 |
21,037,582 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0391:Efhc1
|
UTSW |
1 |
21,030,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0765:Efhc1
|
UTSW |
1 |
21,048,876 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1293:Efhc1
|
UTSW |
1 |
21,048,996 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1414:Efhc1
|
UTSW |
1 |
21,031,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1644:Efhc1
|
UTSW |
1 |
21,037,625 (GRCm39) |
nonsense |
probably null |
|
|
R1799:Efhc1
|
UTSW |
1 |
21,049,762 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1932:Efhc1
|
UTSW |
1 |
21,037,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1991:Efhc1
|
UTSW |
1 |
21,059,784 (GRCm39) |
nonsense |
probably null |
|
|
R2103:Efhc1
|
UTSW |
1 |
21,059,784 (GRCm39) |
nonsense |
probably null |
|
|
R3956:Efhc1
|
UTSW |
1 |
21,048,890 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4812:Efhc1
|
UTSW |
1 |
21,060,871 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5064:Efhc1
|
UTSW |
1 |
21,045,187 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5562:Efhc1
|
UTSW |
1 |
21,043,104 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5800:Efhc1
|
UTSW |
1 |
21,049,005 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5948:Efhc1
|
UTSW |
1 |
21,043,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5977:Efhc1
|
UTSW |
1 |
21,030,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6313:Efhc1
|
UTSW |
1 |
21,049,652 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6375:Efhc1
|
UTSW |
1 |
21,043,164 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6512:Efhc1
|
UTSW |
1 |
21,030,573 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6530:Efhc1
|
UTSW |
1 |
21,031,366 (GRCm39) |
splice site |
probably null |
|
|
R6865:Efhc1
|
UTSW |
1 |
21,030,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7398:Efhc1
|
UTSW |
1 |
21,059,744 (GRCm39) |
missense |
probably benign |
|
|
R7656:Efhc1
|
UTSW |
1 |
21,031,281 (GRCm39) |
splice site |
probably null |
|
|
R7676:Efhc1
|
UTSW |
1 |
21,037,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7719:Efhc1
|
UTSW |
1 |
21,049,744 (GRCm39) |
missense |
probably benign |
|
|
R7775:Efhc1
|
UTSW |
1 |
21,049,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7778:Efhc1
|
UTSW |
1 |
21,049,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7824:Efhc1
|
UTSW |
1 |
21,049,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7857:Efhc1
|
UTSW |
1 |
21,045,226 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7970:Efhc1
|
UTSW |
1 |
21,022,019 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8187:Efhc1
|
UTSW |
1 |
21,030,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8485:Efhc1
|
UTSW |
1 |
21,030,460 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8752:Efhc1
|
UTSW |
1 |
21,059,692 (GRCm39) |
missense |
probably benign |
|
|
R8862:Efhc1
|
UTSW |
1 |
21,037,573 (GRCm39) |
missense |
|
|
|
R9086:Efhc1
|
UTSW |
1 |
21,025,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9328:Efhc1
|
UTSW |
1 |
21,030,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9619:Efhc1
|
UTSW |
1 |
21,037,603 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9625:Efhc1
|
UTSW |
1 |
21,049,738 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9747:Efhc1
|
UTSW |
1 |
21,048,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation